BAFME is an autosomal dominant (AD) syndrome characterized from non progressive cortical tremor (CT) resembling an essential tremor, myoclonic jerks and rare generalized tonic-clonic seizures. First described from Japanese AA, it has been mapped on chromosome 8q24. We describe two new Italian families with BAFME. Video-polygraphic study shows fine arrhythmic myoclonus at upper limbs, generalized paroxysmal activity and photosensitivity at EEG. Jerk-locked back-averaging confirms CT; typical giants SEPs and enhanced C-reflex are presents. Molecular-genetic analysis excluded a linkage to chromosome 8q24 and suggests a linkage to chromosome 2p11.1-q12.2. Our observation confirms the existence of non-Japanese BAMFE families and the genetic heterogeneity of this syndrome.
|Translated title of the contribution||Benign adult familial myoclonic epilepsy (BAFME): Two Italian families with evidence of linkage to chromosome 2p11.1-q12|
|Number of pages||4|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Oct 2002|
ASJC Scopus subject areas
- Clinical Neurology